PubMed (OMIM) for id: 336530

Year	Number of Results
1969	1
1982	1
1983	1
1985	1
1987	1
1991	1
1993	1
1997	2
1999	1
2000	3
2001	2
2003	1
2004	1
2005	2
2024	0

1

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH. Cassidy AJ, et al. Am J Hum Genet. 2005 Dec;77(6):909-17. doi: 10.1086/497707. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380904 Free PMC article.

2

Mapping of the major psoriasis-susceptibility locus (PSORS1) in a 70-Kb interval around the corneodesmosin gene (CDSN).

Orrù S, Giuressi E, Carcassi C, Casula M, Contu L. Orrù S, et al. Am J Hum Genet. 2005 Jan;76(1):164-71. doi: 10.1086/426948. Epub 2004 Nov 4. Am J Hum Genet. 2005. PMID: 15529278 Free PMC article.

3

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.

Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nöthen MM, Pras E. Levy-Nissenbaum E, et al. Nat Genet. 2003 Jun;34(2):151-3. doi: 10.1038/ng1163. Nat Genet. 2003. PMID: 12754508

4

Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA-Cw*0602-B*5701 in German families.

Schmitt-Egenolf M, Windemuth C, Hennies HC, Albis-Camps M, von Engelhardt B, Wienker T, Reis A, Traupe H, Blasczyk R. Schmitt-Egenolf M, et al. Tissue Antigens. 2001 May;57(5):440-6. doi: 10.1034/j.1399-0039.2001.057005440.x. Tissue Antigens. 2001. PMID: 11556968

5

The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene.

O'Brien KP, Holm SJ, Nilsson S, Carlén L, Rosenmüller T, Enerbäck C, Inerot A, Ståhle-Bäckdahl M. O'Brien KP, et al. J Invest Dermatol. 2001 May;116(5):750-4. doi: 10.1046/j.0022-202x.2001.01323.x. J Invest Dermatol. 2001. PMID: 11348465 Free article.

6

Acral peeling skin syndrome.

Hashimoto K, Hamzavi I, Tanaka K, Shwayder T. Hashimoto K, et al. J Am Acad Dermatol. 2000 Dec;43(6):1112-9. doi: 10.1067/mjd.2000.103645. J Am Acad Dermatol. 2000. PMID: 11100033

7

A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele.

Asumalahti K, Laitinen T, Itkonen-Vatjus R, Lokki ML, Suomela S, Snellman E, Saarialho-Kere U, Kere J. Asumalahti K, et al. Hum Mol Genet. 2000 Jun 12;9(10):1533-42. doi: 10.1093/hmg/9.10.1533. Hum Mol Genet. 2000. PMID: 10888604

8

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM. Betz RC, et al. Am J Hum Genet. 2000 Jun;66(6):1979-83. doi: 10.1086/302934. Epub 2000 May 2. Am J Hum Genet. 2000. PMID: 10793007 Free PMC article.

9

Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis.

Tazi Ahnini R, Camp NJ, Cork MJ, Mee JB, Keohane SG, Duff GW, di Giovine FS. Tazi Ahnini R, et al. Hum Mol Genet. 1999 Jun;8(6):1135-40. doi: 10.1093/hmg/8.6.1135. Hum Mol Genet. 1999. PMID: 10332047

10

Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes.

Simon M, Montézin M, Guerrin M, Durieux JJ, Serre G. Simon M, et al. J Biol Chem. 1997 Dec 12;272(50):31770-6. doi: 10.1074/jbc.272.50.31770. J Biol Chem. 1997. PMID: 9395522 Free article.

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